Mutagenetix > Incidental Mutation

Incidental Mutation 'R6332:Agt'

513176

Institutional Source

Beutler Lab

Gene Symbol

Agt

Ensembl Gene

ENSMUSG00000031980

Gene Name

angiotensinogen

Synonyms

angiotensin precursor, Aogen, Serpina8

MMRRC Submission

044486-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125283326-125296445 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 125284572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 389 (Q389K)

Ref Sequence

ENSEMBL: ENSMUSP00000066488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063278]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063278
AA Change: Q389K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066488
Gene: ENSMUSG00000031980
AA Change: Q389K

Domain	Start	End	E-Value	Type
SERPIN	111	478	6.63e-57	SMART

Meta Mutation Damage Score

0.7735

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this gene results in small body size and lower body fat, decreased blood pressure and hypotension, kidney abnormalities, polydipsia and polyuria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	C	A	7: 42,095,667 (GRCm39)	G194C	possibly damaging	Het
Adamtsl1	A	G	4: 86,135,248 (GRCm39)	K258E	probably damaging	Het
Afdn	A	T	17: 14,030,707 (GRCm39)	D206V	possibly damaging	Het
Ankrd44	A	T	1: 54,801,432 (GRCm39)	D298E	probably damaging	Het
Anks1	A	G	17: 28,271,709 (GRCm39)	S897G	probably benign	Het
Apol9b	A	G	15: 77,619,746 (GRCm39)		probably null	Het
Baz1a	T	C	12: 54,965,339 (GRCm39)	E705G	probably benign	Het
BC048679	C	T	7: 81,144,966 (GRCm39)	V126M	probably benign	Het
Cep295	A	G	9: 15,246,210 (GRCm39)	F749L	possibly damaging	Het
Cntrl	T	A	2: 35,018,036 (GRCm39)	I482K	possibly damaging	Het
Col6a3	A	G	1: 90,749,955 (GRCm39)	F293S	probably damaging	Het
Dnah12	T	G	14: 26,439,129 (GRCm39)	M527R	probably damaging	Het
Dnhd1	G	A	7: 105,343,273 (GRCm39)	R1539H	probably benign	Het
Ece1	A	G	4: 137,685,319 (GRCm39)	Y603C	probably damaging	Het
Eea1	G	A	10: 95,877,335 (GRCm39)	A1350T	possibly damaging	Het
Exoc3l4	A	T	12: 111,394,402 (GRCm39)	K507N	possibly damaging	Het
Flt3l	A	T	7: 44,783,091 (GRCm39)		probably null	Het
Fn1	T	C	1: 71,667,230 (GRCm39)	Q834R	probably benign	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hycc2	T	A	1: 58,569,034 (GRCm39)	Y515F	probably damaging	Het
Ifih1	T	C	2: 62,469,827 (GRCm39)	N157D	possibly damaging	Het
Itga2	A	C	13: 114,980,009 (GRCm39)	M1064R	probably benign	Het
Itgae	A	G	11: 73,002,228 (GRCm39)		probably null	Het
Krtap10-4	T	C	10: 77,662,883 (GRCm39)		probably benign	Het
Lamp3	A	G	16: 19,518,431 (GRCm39)	C269R	probably damaging	Het
Lrp5	T	C	19: 3,709,355 (GRCm39)	D125G	probably damaging	Het
Matn2	A	C	15: 34,423,901 (GRCm39)	E586D	probably benign	Het
Mef2b	T	A	8: 70,616,789 (GRCm39)		probably null	Het
Mrps22	A	G	9: 98,483,524 (GRCm39)		probably null	Het
Mtmr2	T	C	9: 13,711,325 (GRCm39)	F445L	probably damaging	Het
Nxph4	A	G	10: 127,362,237 (GRCm39)	V218A	probably damaging	Het
Or1e23	A	G	11: 73,408,001 (GRCm39)	V8A	probably benign	Het
Or4f57	C	T	2: 111,791,091 (GRCm39)	G109D	probably damaging	Het
Or51k1	A	G	7: 103,660,980 (GRCm39)	S310P	probably benign	Het
Pdpk1	A	T	17: 24,325,896 (GRCm39)	V100D	probably damaging	Het
Phldb2	A	C	16: 45,594,609 (GRCm39)	S899A	probably benign	Het
Pnpla3	G	A	15: 84,056,983 (GRCm39)		probably null	Het
Rasal2	A	G	1: 157,126,757 (GRCm39)	Y94H	probably damaging	Het
Rlf	A	T	4: 121,006,019 (GRCm39)	I987N	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rprd2	A	G	3: 95,687,753 (GRCm39)	Y300H	probably damaging	Het
Setbp1	G	A	18: 78,826,584 (GRCm39)	S1343L	probably benign	Het
Sfswap	A	G	5: 129,648,105 (GRCm39)	K938E	possibly damaging	Het
Shld2	A	G	14: 33,990,129 (GRCm39)	V259A	probably benign	Het
Slc3a1	A	C	17: 85,335,860 (GRCm39)	M1L	probably damaging	Het
Slco5a1	C	T	1: 12,991,409 (GRCm39)	V427I	probably benign	Het
Ssbp2	A	T	13: 91,839,027 (GRCm39)	M300L	probably benign	Het
Ssc5d	A	G	7: 4,940,521 (GRCm39)	D878G	probably damaging	Het
Stk19	A	G	17: 35,043,574 (GRCm39)	L212P	probably damaging	Het
Stk39	T	C	2: 68,240,387 (GRCm39)	M115V	possibly damaging	Het
Syt17	A	C	7: 118,033,466 (GRCm39)	S181A	probably benign	Het
Taar7b	A	T	10: 23,875,849 (GRCm39)	N5Y	probably benign	Het
Tmc4	A	G	7: 3,680,421 (GRCm39)		probably null	Het
Tmem248	T	A	5: 130,258,310 (GRCm39)	M1K	probably null	Het
Tmem82	T	A	4: 141,343,721 (GRCm39)	Q183L	probably damaging	Het
Tpd52l1	T	C	10: 31,214,203 (GRCm39)	E142G	probably damaging	Het
Ttll2	A	T	17: 7,619,167 (GRCm39)	H253Q	probably damaging	Het
Ttn	T	C	2: 76,687,808 (GRCm39)		probably benign	Het
Ubd	A	G	17: 37,506,392 (GRCm39)	K93E	probably benign	Het
Ugt2b35	T	A	5: 87,149,415 (GRCm39)	F222Y	probably damaging	Het
Vmn2r10	G	T	5: 109,151,328 (GRCm39)	N95K	probably damaging	Het
Vwa8	T	C	14: 79,434,904 (GRCm39)	V1775A	probably benign	Het
Zdbf2	A	G	1: 63,346,981 (GRCm39)	K1787E	possibly damaging	Het
Zfp26	A	T	9: 20,348,582 (GRCm39)	F661I	probably damaging	Het
Zfp735	A	T	11: 73,602,504 (GRCm39)	K483*	probably null	Het
Zfp946	A	G	17: 22,673,519 (GRCm39)	E91G	probably damaging	Het
Zic5	C	A	14: 122,697,161 (GRCm39)	D485Y	unknown	Het
Zmynd8	A	T	2: 165,680,772 (GRCm39)	D236E	probably damaging	Het

Other mutations in Agt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Agt	APN	8	125,284,634 (GRCm39)	splice site	probably benign
IGL01648:Agt	APN	8	125,291,145 (GRCm39)	missense	probably benign	0.01
IGL02145:Agt	APN	8	125,291,187 (GRCm39)	missense	probably damaging	0.99
IGL02929:Agt	APN	8	125,283,829 (GRCm39)	missense	probably benign
IGL02978:Agt	APN	8	125,284,502 (GRCm39)	missense	possibly damaging	0.93
IGL03207:Agt	APN	8	125,286,107 (GRCm39)	missense	probably damaging	0.98
R0518:Agt	UTSW	8	125,283,839 (GRCm39)	nonsense	probably null
R0521:Agt	UTSW	8	125,283,839 (GRCm39)	nonsense	probably null
R0562:Agt	UTSW	8	125,286,014 (GRCm39)	missense	probably benign	0.00
R0591:Agt	UTSW	8	125,283,678 (GRCm39)	missense	possibly damaging	0.77
R0646:Agt	UTSW	8	125,283,852 (GRCm39)	missense	probably damaging	1.00
R1495:Agt	UTSW	8	125,286,194 (GRCm39)	missense	probably damaging	1.00
R2568:Agt	UTSW	8	125,283,694 (GRCm39)	missense	probably damaging	1.00
R4750:Agt	UTSW	8	125,283,676 (GRCm39)	missense	probably benign
R4941:Agt	UTSW	8	125,283,727 (GRCm39)	missense	probably benign	0.32
R5782:Agt	UTSW	8	125,283,870 (GRCm39)	splice site	probably null
R5916:Agt	UTSW	8	125,290,597 (GRCm39)	missense	possibly damaging	0.70
R7769:Agt	UTSW	8	125,291,289 (GRCm39)	missense	probably benign	0.41
R8354:Agt	UTSW	8	125,290,842 (GRCm39)	missense	probably benign	0.06
R8443:Agt	UTSW	8	125,290,537 (GRCm39)	missense	possibly damaging	0.82
R8454:Agt	UTSW	8	125,290,842 (GRCm39)	missense	probably benign	0.06
R8808:Agt	UTSW	8	125,291,028 (GRCm39)	missense	probably benign	0.01
R8911:Agt	UTSW	8	125,291,184 (GRCm39)	missense	probably benign	0.00
R9012:Agt	UTSW	8	125,290,954 (GRCm39)	missense	probably benign	0.00
R9357:Agt	UTSW	8	125,291,065 (GRCm39)	missense	probably benign
X0067:Agt	UTSW	8	125,283,694 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGAACTAGAGATGCCAAG -3'
(R):5'- AGCTGTGTCTTATGCACCCC -3'

Sequencing Primer
(F):5'- TGTTCCCCATGTCACTGGGAG -3'
(R):5'- GTGTCTTATGCACCCCCTTCC -3'

Posted On

2018-04-27